Variant report

Variant	rs6695956
Chromosome Location	chr1:174711947-174711948
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:174633951..174635550-chr1:174711716..174714165,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs16847121	0.90[EUR][1000 genomes]
rs16847206	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2179108	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2179109	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs41266052	0.90[EUR][1000 genomes]
rs4515855	0.85[EUR][1000 genomes]
rs56864802	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57053120	0.81[EUR][1000 genomes]
rs57132183	0.90[EUR][1000 genomes]
rs57243929	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57648142	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs57898822	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs58762254	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59190079	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59262554	0.90[EUR][1000 genomes]
rs59354288	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59436654	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60240702	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60665754	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60723087	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60865584	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60885521	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61028529	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61329817	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6673649	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6692753	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6703536	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7543502	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7547843	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014637	chr1:174265631-174826765	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv535208	chr1:174265631-174826765	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	esv2755184	chr1:174388343-174970343	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6695956	RABGAP1L	Cis_1M	lymphoblastoid	RTeQTL
rs6695956	CRYM	trans	lymphoblastoid	RTeQTL

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174705800-174712200	Weak transcription	Left Ventricle	heart
2	chr1:174706000-174730400	Weak transcription	Aorta	Aorta
3	chr1:174706200-174734000	Weak transcription	Primary B cells from peripheral blood	blood
4	chr1:174707200-174715000	Weak transcription	Fetal Heart	heart
5	chr1:174707600-174712200	Weak transcription	Liver	Liver
6	chr1:174708000-174722000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:174709200-174713200	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr1:174709400-174712600	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr1:174709600-174713400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:174709800-174712000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:174710200-174719800	Weak transcription	GM12878-XiMat	blood
12	chr1:174710600-174712400	Weak transcription	Fetal Intestine Large	intestine
13	chr1:174711600-174712000	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr1:174711600-174712400	Enhancers	Fetal Intestine Small	intestine
15	chr1:174711800-174712400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr1:174711800-174712400	Enhancers	NHDF-Ad	bronchial
17	chr1:174711800-174712600	Enhancers	Muscle Satellite Cultured Cells	--
18	chr1:174711800-174712800	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr1:174711800-174745600	Weak transcription	Primary B cells from cord blood	blood

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